Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153955425C>A | CA415126771 | HCFC1 | c.2974G>T (p.Ala992Ser) c.2776G>T (p.Ala926Ser) c.2065G>T (p.Ala689Ser) | |
X | g.153955425C= | CA2466540519 | HCFC1 | c.2974G= (p.Ala992=) c.2776G= (p.Ala926=) c.2065G= (p.Ala689=) | |
X | g.153955425C>G | CA415126773 | HCFC1 | c.2974G>C (p.Ala992Pro) c.2776G>C (p.Ala926Pro) c.2065G>C (p.Ala689Pro) | |
X | g.153955425C>T | CA10557252 | HCFC1 | c.2974G>A (p.Ala992Thr) c.2776G>A (p.Ala926Thr) c.2065G>A (p.Ala689Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153955426G>A | CA519702777 | HCFC1 | c.2973C>T (p.Thr991=) c.2775C>T (p.Thr925=) c.2064C>T (p.Thr688=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153955426G>C | CA519702779 | HCFC1 | c.2973C>G (p.Thr991=) c.2775C>G (p.Thr925=) c.2064C>G (p.Thr688=) | |
X | g.153955426G= | CA2466540520 | HCFC1 | c.2973C= (p.Thr991=) c.2775C= (p.Thr925=) c.2064C= (p.Thr688=) | |
X | g.153955426G>T | CA519702778 | HCFC1 | c.2973C>A (p.Thr991=) c.2775C>A (p.Thr925=) c.2064C>A (p.Thr688=) | gnomAD v4 |
X | g.153955427G>A | CA415126778 | HCFC1 | c.2972C>T (p.Thr991Ile) c.2774C>T (p.Thr925Ile) c.2063C>T (p.Thr688Ile) | |
X | g.153955427G>C | CA10557253 | HCFC1 | c.2972C>G (p.Thr991Ser) c.2774C>G (p.Thr925Ser) c.2063C>G (p.Thr688Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153955427G= | CA2466540521 | HCFC1 | c.2972C= (p.Thr991=) c.2774C= (p.Thr925=) c.2063C= (p.Thr688=) | |
X | g.153955427G>T | CA415126775 | HCFC1 | c.2972C>A (p.Thr991Asn) c.2774C>A (p.Thr925Asn) c.2063C>A (p.Thr688Asn) | |
X | g.153955428T>A | CA415126780 | HCFC1 | c.2971A>T (p.Thr991Ser) c.2773A>T (p.Thr925Ser) c.2062A>T (p.Thr688Ser) | |
X | g.153955428T>C | CA415126782 | HCFC1 | c.2971A>G (p.Thr991Ala) c.2773A>G (p.Thr925Ala) c.2062A>G (p.Thr688Ala) | |
X | g.153955428T>G | CA415126784 | HCFC1 | c.2971A>C (p.Thr991Pro) c.2773A>C (p.Thr925Pro) c.2062A>C (p.Thr688Pro) | |
X | g.153955429G>A | CA519702780 | HCFC1 | c.2970C>T (p.Pro990=) c.2772C>T (p.Pro924=) c.2061C>T (p.Pro687=) | ClinVar |
X | g.153955429G>C | CA519702782 | HCFC1 | c.2970C>G (p.Pro990=) c.2772C>G (p.Pro924=) c.2061C>G (p.Pro687=) | |
X | g.153955429G>T | CA519702781 | HCFC1 | c.2970C>A (p.Pro990=) c.2772C>A (p.Pro924=) c.2061C>A (p.Pro687=) | |
X | g.153955430G>A | CA415126786 | HCFC1 | c.2969C>T (p.Pro990Leu) c.2771C>T (p.Pro924Leu) c.2060C>T (p.Pro687Leu) | dbSNP |
X | g.153955430G>C | CA415126789 | HCFC1 | c.2969C>G (p.Pro990Arg) c.2771C>G (p.Pro924Arg) c.2060C>G (p.Pro687Arg) | |
X | g.153955430G= | CA2466540522 | HCFC1 | c.2969C= (p.Pro990=) c.2771C= (p.Pro924=) c.2060C= (p.Pro687=) | |
X | g.153955430G>T | CA415126790 | HCFC1 | c.2969C>A (p.Pro990His) c.2771C>A (p.Pro924His) c.2060C>A (p.Pro687His) | |
X | g.153955431G>A | CA415126792 | HCFC1 | c.2968C>T (p.Pro990Ser) c.2770C>T (p.Pro924Ser) c.2059C>T (p.Pro687Ser) | |
X | g.153955431G>C | CA415126796 | HCFC1 | c.2968C>G (p.Pro990Ala) c.2770C>G (p.Pro924Ala) c.2059C>G (p.Pro687Ala) | |
X | g.153955431G>T | CA415126794 | HCFC1 | c.2968C>A (p.Pro990Thr) c.2770C>A (p.Pro924Thr) c.2059C>A (p.Pro687Thr) | |
X | g.153955432C>A | CA415126797 | HCFC1 | c.2967G>T (p.Gln989His) c.2769G>T (p.Gln923His) c.2058G>T (p.Gln686His) | |
X | g.153955432C>G | CA415126799 | HCFC1 | c.2967G>C (p.Gln989His) c.2769G>C (p.Gln923His) c.2058G>C (p.Gln686His) | |
X | g.153955432C>T | CA519702783 | HCFC1 | c.2967G>A (p.Gln989=) c.2769G>A (p.Gln923=) c.2058G>A (p.Gln686=) | |
X | g.153955433T>A | CA415126801 | HCFC1 | c.2966A>T (p.Gln989Leu) c.2768A>T (p.Gln923Leu) c.2057A>T (p.Gln686Leu) | |
X | g.153955433T>C | CA415126803 | HCFC1 | c.2966A>G (p.Gln989Arg) c.2768A>G (p.Gln923Arg) c.2057A>G (p.Gln686Arg) | |
X | g.153955433T>G | CA415126805 | HCFC1 | c.2966A>C (p.Gln989Pro) c.2768A>C (p.Gln923Pro) c.2057A>C (p.Gln686Pro) | |
X | g.153955434G>A | CA415126807 | HCFC1 | c.2965C>T (p.Gln989Ter) c.2767C>T (p.Gln923Ter) c.2056C>T (p.Gln686Ter) | |
X | g.153955434G>C | CA415126810 | HCFC1 | c.2965C>G (p.Gln989Glu) c.2767C>G (p.Gln923Glu) c.2056C>G (p.Gln686Glu) | |
X | g.153955434G>T | CA415126812 | HCFC1 | c.2965C>A (p.Gln989Lys) c.2767C>A (p.Gln923Lys) c.2056C>A (p.Gln686Lys) | |
X | g.153955435T>A | CA415126814 | HCFC1 | c.2964A>T (p.Glu988Asp) c.2766A>T (p.Glu922Asp) c.2055A>T (p.Glu685Asp) | |
X | g.153955435T>C | CA519702784 | HCFC1 | c.2964A>G (p.Glu988=) c.2766A>G (p.Glu922=) c.2055A>G (p.Glu685=) | |
X | g.153955435T>G | CA415126816 | HCFC1 | c.2964A>C (p.Glu988Asp) c.2766A>C (p.Glu922Asp) c.2055A>C (p.Glu685Asp) | |
X | g.153955436T>A | CA415126818 | HCFC1 | c.2963A>T (p.Glu988Val) c.2765A>T (p.Glu922Val) c.2054A>T (p.Glu685Val) | |
X | g.153955436T>C | CA415126822 | HCFC1 | c.2963A>G (p.Glu988Gly) c.2765A>G (p.Glu922Gly) c.2054A>G (p.Glu685Gly) | |
X | g.153955436T>G | CA415126820 | HCFC1 | c.2963A>C (p.Glu988Ala) c.2765A>C (p.Glu922Ala) c.2054A>C (p.Glu685Ala) | |
X | g.153955437C>A | CA415126824 | HCFC1 | c.2962G>T (p.Glu988Ter) c.2764G>T (p.Glu922Ter) c.2053G>T (p.Glu685Ter) | |
X | g.153955437C>G | CA415126825 | HCFC1 | c.2962G>C (p.Glu988Gln) c.2764G>C (p.Glu922Gln) c.2053G>C (p.Glu685Gln) | |
X | g.153955437C>T | CA415126827 | HCFC1 | c.2962G>A (p.Glu988Lys) c.2764G>A (p.Glu922Lys) c.2053G>A (p.Glu685Lys) | |
X | g.153955438T>A | CA519702787 | HCFC1 | c.2961A>T (p.Thr987=) c.2763A>T (p.Thr921=) c.2052A>T (p.Thr684=) | |
X | g.153955438T>C | CA519702786 | HCFC1 | c.2961A>G (p.Thr987=) c.2763A>G (p.Thr921=) c.2052A>G (p.Thr684=) | |
X | g.153955438T>G | CA519702785 | HCFC1 | c.2961A>C (p.Thr987=) c.2763A>C (p.Thr921=) c.2052A>C (p.Thr684=) | |
X | g.153955439G>A | CA415126829 | HCFC1 | c.2960C>T (p.Thr987Ile) c.2762C>T (p.Thr921Ile) c.2051C>T (p.Thr684Ile) | |
X | g.153955439G>C | CA415126831 | HCFC1 | c.2960C>G (p.Thr987Arg) c.2762C>G (p.Thr921Arg) c.2051C>G (p.Thr684Arg) | |
X | g.153955439G>T | CA415126832 | HCFC1 | c.2960C>A (p.Thr987Lys) c.2762C>A (p.Thr921Lys) c.2051C>A (p.Thr684Lys) | |
X | g.153955440T>A | CA415126835 | HCFC1 | c.2959A>T (p.Thr987Ser) c.2761A>T (p.Thr921Ser) c.2050A>T (p.Thr684Ser) |